Prenatal diagnosis and prevention of inherited abnormalities of collagen


There is now strong evidence for the implication of collagen α1(I), α2(I) and α1(III) mutations in many forms of osteogenesis imperfecta and inherited arterial aneurysms (Ehlers Danlos syndrome type IV). A sizeable proportion of these disorders have detectable abnormalities by conventional protein chemistry, immunofluorescence, or more sophisticated DNA… (More)
DOI: 10.1007/BF01799292


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